IthaID: 457



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 9 AAC>AAG [Asn>Lys] HGVS Name: HBA2:c.30C>G
Hb Name: Hb Park Ridge Protein Info: α2 9(A7) Asn>Lys

Context nucleotide sequence:
TGCTGTCTCCTGCCGACAAGACCAA [C/G] GTCAAGGCCGCCTGGGGTAAGGTCG (Strand: +)

Protein sequence:
MVLSPADKTKVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: The site of the mutation is external; it is neither an heme nor an α/β contact. It is expected to be silent. Stable to heat. Discovered in a hematologically normal Caucasian individual.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33805
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Caucasian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, McCormick DJ, Snow K, Kwon JH, Booth D, Duarte M, Grayson G, Kubik KS, Holmes MW, Fairbanks VF, Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)]., Hemoglobin , 26(2), 175-9, 2002 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-06-20 15:47:15 (Show full history)

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